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Standard

Height

PEX2 · rs6473015

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, with 2 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 133,653 European ancestry individuals; replicated in 50,074 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.029 lower; p = 7 × 10−13.

How common The A allele had a frequency of about 72% in the people studied.

Where it sits Chromosome 8, band 8q21.13 — between genes, 132.8 kb from LOC105375909.

How common each version is

AC
Korean KRGDB
A 80.9% · C 19.1%
Korean Korea4K
A 81.0% · C 19.1%
Korean Korea1K
A 81.7% · C 18.3%
Japanese ToMMo
A 79.6% · C 20.4%
Vietnamese
A 84.7% · C 15.3%
World gnomAD
A 77.0% · C 23.1%
World 1000 Genomes
A 77.6% · C 22.4%
World TOPMed
A 77.2% · C 22.8%

By ancestry gnomAD

East Asian
A 80.3% · C 19.7%
European (non-Finnish)
A 71.4% · C 28.6%
African / African American
A 86.8% · C 13.2%
South Asian
A 71.4% · C 28.6%
Admixed American (Latino)
A 75.4% · C 24.6%
Middle Eastern
A 72.1% · C 27.9%
Finnish
A 78.5% · C 21.5%
Ashkenazi Jewish
A 74.4% · C 25.6%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A Two copies of the version the research linked to Height. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Height. That is a smaller link than two copies.
C/C No copy of the version the research linked to Height. This is the starting point the study compared everyone against.
Source

Quoting this page

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Height (rs6473015). MyGeneLog™. https://www.mygenelog.com/variants/rs6473015

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